Data/hora: 04/06/2024 08:45:37

Provedor de dados: | 74
País: | Brazil
Título: | Absence of the -116A variant of the butyrylcholinesterase BCHE gene in Guarani Amerindians from Mato Grosso do Sul
Autores: | Nunes,Kelly; Souza,Ricardo L.R.; Furtado-Alle,Lupe; Tsuneto,Luiza T.; Petzl-Erler,Maria Luiza; Chautard-Freire-Maia,Eleidi A.
Data: | 2008-01-01
Ano: | 2008
Palavras-chave: | Amerindians; BCHE gene; Guarani-Kaiowá; Guarani-Ñandeva.
Resumo: | Butyrylcholinesterase (BChE; EC 3.1.1.8; Online Mendelian Inheritance in Man (OMIM) number 177400) is an enzyme found in many human tissues and encoded by the BCHE gene, of which 65 variants have been identified. In a recent study we found that the -116A variant of exon 1 of the BCHE gene was associated with lower mean BChE activity. The present study analyzed the -116 single nucleotide polymorphism (SNP) in 253 Guarani Amerindian Brazilians from the state of Mato Grosso do Sul (148 Guarani-Kaiowá, 83 Guarani-Ñandeva and 22 Kaiowá-Ñandeva descendants) and verified that they were all homozygotic for the -116G variant. A comparative analysis of the -116 site in nine vertebrate species indicated the -116A variant as the ancestral type. This is the first study of the -116 SNP in Amerindians and it is therefore difficult to infer whether or not the -116A variant was always absent from southern paleo-Amerindians or was present and then subsequently lost due to evolutionary factors.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100004
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572008000100004
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.31 n.1 2008
Fonte: | info:eu-repo/semantics/openAccess